Contents of the subject are oriented to understand: the organization of the human genome; the organization, distribution and function of the RNA genes and genes encoding polypeptides; Tandem and scattered repeat non-coding DNA; Genetics of development; genetic control of embryonic development; congenital defects, sex determination and differentiation; genetic imprinting; inactivation of the X chromosome; Genetic of populations, mutation and genetic polymorphisms in human populations; Human cytogenetics, methods of study and main chromosomal alterations; Genetics and cancer, oncogenes, tumor suppressor genes, and genome stability; Prenatal diagnosis: indications and study techniques, prenatal screenings. Genetic tests in individuals and populations. General diagnostic strategies for genetic diseases. Mutation detection methods. Application of the genetic ligament to diagnosis: indirect diagnosis.

In-person classes: the student acquires the scientific knowledge of the subject by attending theory classes, which will complement the personal study of the topics discussed. Classes are considered unidirectional as a transmission from teacher to student. Although at certain moments a debate or collective reflection is possible.

Classes of problems and seminars: The knowledge developed in the theory classes and worked on in the personal study are applied to the resolution of practical cases and oral presentations in small groups. These types of methodology allow to deepen some of the topics studied in class.

a) Two partial exams, test type and/or with short questions. Each partial will include approximately 50% of the topics.

In the partial exams of human genetics, the minimum grade to make an average will be a 5. At the end of the year there will be a recovery test, for those students who have not passed any of the partial exams, or who have not submitted to any of the two written tests.

The average grade of these exams represents 60% of the final grade. Students who have passed the two partial exams and want to raise their grade, can take an exam on the same day of the recovery, which will consist of developing two or three subjects

b) Problem solving exam: 20% of the final mark.

c) Work prepared in groups of four students: 15% of the final grade. This evaluation will take into account: the contents (10%) the oral presentation (5%). The evaluation will be individual.

d) The resolution of small tasks during the course: 5% of the final mark

It will be considered that a student will obtain the grade of Non-Evaluable if, not taking the single assessment, the number of assessment activities carried out has a weight of less than 50% of the final grade.

Unique assessment:

The single assessment consists of a test that includes a synthesis test in which the contents of the entire theory program, classroom practices and seminars will be evaluated (this part has a weight of 75% of the grade), and a test in which the summary of a scientific article will be defended using an oral presentation (this part has a weight of 25% of the grade). The synthesis test will consist of test-type questions or short questions.

Any irregularity in an assessment act (academic fraud, plagiarism or improper use of AI, unless this use is expressly authorized in the teaching guide), which may lead to a significant variation in the grade, means that this act will be graded with a 0. In the event that the teaching guide provides that in order to pass the subject it is an essential requirement to have obtained a minimum grade in this assessment act or that several irregularities occur in the assessment acts of the same subject, the final grade for this subject is 0. Apart from this, a disciplinary process may be initiated against the student who incurs any of these irregularities.

In case of inconsistency between the different teachers, the teaching guide in Catalan prevails.